Canonical Allele Identifier: CA411314761
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 899620
ClinVar RCV Id: RCV001144294
dbSNP Id: rs2094042528
gnomAD v4: 22-32104850-A-C
MyVariant Identifiers: chr22:g.32500837A>C (hg19) chr22:g.32104850A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104850A>C , CM000684.2:g.32104850A>C GRCh38
NC_000022.10:g.32500837A>C , CM000684.1:g.32500837A>C GRCh37
NC_000022.9:g.30830837A>C NCBI36
NG_017045.1:g.66819A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1730A>C MANE Select ENSP00000266088.4:p.Glu577Ala
ENST00000266088.8:c.1730A>C ENSP00000266088.4:p.Glu577Ala
ENST00000543737.2:c.1349A>C ENSP00000444898.1:p.Glu450Ala
NM_000343.3:c.1730A>C NP_000334.1:p.Glu577Ala
NM_001256314.1:c.1349A>C NP_001243243.1:p.Glu450Ala
XR_938173.1:n.591+1988T>G
XR_938174.1:n.486+15005T>G
NM_000343.4:c.1730A>C MANE Select NP_000334.1:p.Glu577Ala
NM_001256314.2:c.1349A>C NP_001243243.1:p.Glu450Ala
Search 100 bp 5'
Search 100 bp 3'